A Lethal Defect of Mitochondrial and Peroxisomal Fission

Hans R. Waterham, Janet Koster, Carlo W.T. van Roermund, +3

New England Journal of Medicine

MitophagyGeneticsMolecular BiologyOxidative StressMitochondrial Biogenesis +14

Mutations in the 3β-Hydroxysterol Δ24-Reductase Gene Cause Desmosterolosis, an Autosomal Recessive Disorder of Cholesterol Biosynthesis

Hans R. Waterham, Janet Koster, G. J. Romeijn, +6

The American Journal of Human Genetics

Cholesterol BiosynthesisBiosynthesisOxysterolBiochemistryGenetic Disorder +8

Autosomal Recessive HEM/Greenberg Skeletal Dysplasia Is Caused by 3β-Hydroxysterol Δ14-Reductase Deficiency Due to Mutations in the Lamin B Receptor Gene

Hans R. Waterham, Janet Koster, P. A. W. Mooyer, +6

The American Journal of Human Genetics

Mendelian DisorderGenetic DisorderGeneticsInherited Metabolic DiseasePathology +4

Sodium taurocholate cotransporting polypeptide (SLC10A1) deficiency: Conjugated hypercholanemia without a clear clinical phenotype

Frédéric M. Vaz, Coen C. Paulusma, Hidde H. Huidekoper, +10

Hepatology

Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder

Merel S. Ebberink, Petra A.W. Mooijer, Jeannette Gootjes, +3

Human Mutation

Mendelian DisorderGenetic DisorderZss DisordersGeneticsClinical Genetics +13

Clinical, biochemical, and mutational spectrum of peroxisomal acyl–coenzyme A oxidase deficiency

Sacha Ferdinandusse, Simone Denis, Eveline M. Hogenhout, +6

Human Mutation

ECHS1 mutations in Leigh disease: a new inborn error of metabolism affecting valine metabolism

Heidi Peters, Nicole E. Buck, Ronald J. A. Wanders, +6

Brain

Fatal Leigh DiseaseGeneticsMolecular BiologyPathologyMolecular Genetics +16

HMG-CoA reductase inhibition induces IL-1β release through Rac1/PI3K/PKB-dependent caspase-1 activation

Loes M. Kuijk, Jeffrey M. Beekman, Janet Koster, +3

Blood

A novel bile acid biosynthesis defect due to a deficiency of peroxisomal ABCD3

Sacha Ferdinandusse, Gerardo Jiménez‐Sánchez, Janet Koster, +12

Human Molecular Genetics

A novel defect of peroxisome division due to a homozygous non-sense mutation in the <i>PEX11β</i> gene

Merel S. Ebberink, Janet Koster, Gepke Visser, +7

Journal of Medical Genetics